UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150393536_150393537insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA , CM000667.2:g.150393536_150393537insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | GRCh38 |
| NC_000005.9:g.149773099_149773100insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA , CM000667.1:g.149773099_149773100insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | GRCh37 |
| NC_000005.8:g.149753292_149753293insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | NCBI36 |
| NG_011341.1:g.40898_40899insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427724.7:c.3651_3652insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | ENSP00000390717.3:p.Leu1218ProfsTer13 | |
| ENST00000643257.2:c.3768_3769insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA MANE Select | ENSP00000493815.1:p.Leu1257ProfsTer13 | |
| ENST00000650162.1:c.3423_3424insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | ENSP00000497075.1:p.Leu1142ProfsTer13 | |
| ENST00000674413.1:c.3167_3168insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | ||
| ENST00000323668.11:c.3534_3535insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | ENSP00000325223.6:p.Leu1179ProfsTer13 | |
| ENST00000377797.7:c.3765_3766insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | ENSP00000367028.4:p.Leu1256ProfsTer13 | |
| ENST00000427724.6:c.3651_3652insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | ENSP00000390717.2:p.Leu1218ProfsTer13 | |
| ENST00000439160.6:c.3654_3655insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | ENSP00000406888.2:p.Leu1219ProfsTer13 | |
| ENST00000445265.6:c.3537_3538insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | ENSP00000409944.2:p.Leu1180ProfsTer13 | |
| ENST00000504761.6:c.3765_3766insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | ENSP00000421655.2:p.Leu1256ProfsTer13 | |
| ENST00000513346.5:c.3765_3766insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | ENSP00000427484.1:p.Leu1256ProfsTer13 | |
| ENST00000514442.5:n.3815_3816insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | ||
| ENST00000515516.1:c.343-3207_343-3206insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | ENSP00000426471.1:n.343-3207_343-3206insCCTATCAAGTCAACAAAATCA... | |
| NM_000356.3:c.3534_3535insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | NP_000347.2:p.Leu1179ProfsTer13 | |
| NM_001135243.1:c.3765_3766insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | NP_001128715.1:p.Leu1256ProfsTer13 | |
| NM_001135244.1:c.3654_3655insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | NP_001128716.1:p.Leu1219ProfsTer13 | |
| NM_001135245.1:c.3537_3538insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | NP_001128717.1:p.Leu1180ProfsTer13 | |
| NM_001195141.1:c.3651_3652insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | NP_001182070.1:p.Leu1218ProfsTer13 | |
| XM_005268502.2:c.3879_3880insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | XP_005268559.1:p.Leu1294ProfsTer13 | |
| XM_005268503.2:c.3876_3877insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | XP_005268560.1:p.Leu1293ProfsTer13 | |
| XM_005268504.2:c.3876_3877insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | XP_005268561.1:p.Leu1293ProfsTer13 | |
| XM_005268505.2:c.3768_3769insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | XP_005268562.1:p.Leu1257ProfsTer13 | |
| XM_005268506.2:c.3765_3766insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | XP_005268563.1:p.Leu1256ProfsTer13 | |
| XM_005268507.2:c.3648_3649insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | XP_005268564.1:p.Leu1217ProfsTer13 | |
| XM_011537678.1:c.3699_3700insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | XP_011535980.1:p.Leu1234ProfsTer13 | |
| XM_005268502.4:c.3879_3880insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | XP_005268559.1:p.Leu1294ProfsTer13 | |
| XM_005268503.4:c.3876_3877insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | XP_005268560.1:p.Leu1293ProfsTer13 | |
| XM_005268504.4:c.3876_3877insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | XP_005268561.1:p.Leu1293ProfsTer13 | |
| XM_005268505.4:c.3768_3769insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | XP_005268562.1:p.Leu1257ProfsTer13 | |
| XM_005268506.4:c.3765_3766insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | XP_005268563.1:p.Leu1256ProfsTer13 | |
| XM_005268507.4:c.3648_3649insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | XP_005268564.1:p.Leu1217ProfsTer13 | |
| XM_011537678.3:c.3699_3700insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | XP_011535980.1:p.Leu1234ProfsTer13 | |
| XM_017009792.2:c.3762_3763insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | XP_016865281.1:p.Leu1255ProfsTer13 | |
| XM_017009793.2:c.3588_3589insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | XP_016865282.1:p.Leu1197ProfsTer13 | |
| XM_017009794.2:c.3474_3475insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | XP_016865283.1:p.Leu1159ProfsTer13 | |
| XR_427778.3:n.3885_3886insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | ||
| XR_427780.3:n.3774_3775insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | ||
| NM_000356.4:c.3534_3535insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | NP_000347.2:p.Leu1179ProfsTer13 | |
| NM_001135244.2:c.3654_3655insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | NP_001128716.1:p.Leu1219ProfsTer13 | |
| NM_001135245.2:c.3537_3538insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | NP_001128717.1:p.Leu1180ProfsTer13 | |
| NM_001195141.2:c.3651_3652insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | NP_001182070.1:p.Leu1218ProfsTer13 | |
| NM_001371623.1:c.3768_3769insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA MANE Select | NP_001358552.1:p.Leu1257ProfsTer13 | |
| NM_001135243.2:c.3765_3766insCCTATCAAGTCAACAAAATCACCTACGCCTCCGGCCTAACACGCCTGGCAACAGCGCCCAAGCCGCAACCCAAACCTGTCGAGCTGACGCCGGAAGAAGAATTCTCGCTA | NP_001128715.1:p.Leu1256ProfsTer13 |